Working mutation analysis in children with glucose-6-phosphate dehydrogenase deficiency

OBJECTIVE : To determine the incidence of Mediterranean G6PD S218F mutation which is the most common mutation among glucose-6-phosphate dehydrogenase (G6PD) deficiency cases both in the world and in our country. MATERIALS AND METHODS: Were included G6PD deficiency cases whose enzyme levels<6 with mutation analysis, and diagnosed between 2004-2012 at neonatology and hematology department in Adnan Menderes University Hospital. The presenting complaints and history, physical examination findings, laboratory results (complete blood count, liver function tests, enzyme levels, mutation analysis of the results) of patients were recorded. G6PD activity was determined by quantitative spectrophotometry in biochemistry and G6PD mutations were analyzed with LightCycler 5.1 real-time PCR melting-curve analysis in genetics. RESULTS: Totally 60 patients with the diagnosis of G6PD deficiency anemia admitted to hospital; 29 have neonatal jaundice and 31 have favizm. 44 patients (73.3%)were male, 16 (26.7%) were female; favizm cases diagnosed 27 (87%) patients were male and 4 (13%) were females. 17 cases of neonatal jaundice (58%) were male and 12 (41.3%) were female. In 28 of 31 patients diagnosed with favizm have fatigue, 30 patients have jaundice and 22 have vomiting. The average time between the occurrence of symptoms after eating fava is 6 hours (range, 2-24 hours). Three patients who presented with jaundice in neonatal period had pathological jaundice (jaundice beginning in the first 24 hours), 16 patients had a history of prolonged jaundice. Anemia was not detected, in any of the babies who have jaundice, seemed to be the principal mechanism is conjugation disorder. Exchange transfüssion was applicated to 4 patients with hyperbilirubinemia, 3 of them were male and 1 was female. Totally in 21 patients (35%) G6PD deficiency has been detected; 15 patients (25%) were homozygously, 6 (10%), patient were heterozygous of G6PD Mediterranean S218F mutation was detected. Mutations detected in 13 (42%) favizm, 8 patients (27%) had neonatal jaundice. 1 of 15 patients with homozygous mutation (6.6%) were female and 14 (93%) were male. The difference was statistically significant (p <0.001). All 6 patients with G6PD mutation S218F heterozygous were female. 4 of homozygous mutation detected patients had neonatal jaundice, 11 had jaundice after eating beans, 4 of patients with heterozygous mutations had neonatal jaundice, and 2 had jaundice after eating bean. There is no statistically difference 50 between G6PD S218F mutation incidence of favizm and neonatal jaundice in the newborns (p= 0130). CONCLUSION: We determined the incidence of mutations in G6PD Mediterranean S218F as 35%. This ratio is lower than the other investigations in our country with the ratio of 53- 80%. This situation may be due to regional differences in the number of cases and case studies, such as caused by differences in characteristics. DNA sequence analysis of mutations other than the detection of mutations in the Mediterranean region determination better reflect the characteristics of our region. Key words: S218F mutation of G6PD, Mediterranean mutation, glucose-6-phosphate dehydrogenase deficiency, neonatal jaundice, favizm.